The occurrence of neonatal acute respiratory disorders in 21-hydroxylase deficiency

Patients with 21-hydroxyase deficiency (21-OHD) usually do not present clinical symptoms other than female ambiguous genitalia and skin pigmentation at birth. However, we have found a case of neonatal transient tachypnea with spontaneous pneumomediastinum in a neonate with 21-OHD at birth. The purpo...

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Bibliographic Details
Published in:ENDOCRINE JOURNAL 2011, Vol.58(7), pp.603-606
Main Authors: Nagasaki, Keisuke, Asami, Tadashi, Abe, Yuki, Usuda, Touhei, Kikuchi, Toru, Uchiyama, Makoto
Format: Article
Language:English
Subjects:
21-hydroxylase deficiency
Adrenal Hyperplasia, Congenital - complications
Adrenal Hyperplasia, Congenital - epidemiology
Congenital adrenal hyperplasia
Female
Humans
Infant, Newborn
Japan - epidemiology
Male
Neonatal respiratory disorders
Pneumothorax
Respiration Disorders - enzymology
Respiration Disorders - epidemiology
Retrospective Studies
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Summary:Patients with 21-hydroxyase deficiency (21-OHD) usually do not present clinical symptoms other than female ambiguous genitalia and skin pigmentation at birth. However, we have found a case of neonatal transient tachypnea with spontaneous pneumomediastinum in a neonate with 21-OHD at birth. The purpose of this study was to investigate the occurrence of neonatal respiratory disorders in 21-OHD patients. From April 1989 to March 2009, 478,337 Japanese newborns were screened for congenital adrenal hyperplasia in Niigata prefecture. Among these newborns, 26 patients were diagnosed as having 21-OHD. We investigated the presence of neonatal respiratory disorders based on the retrospective medical records of 24 full-term patients with 21-OHD. Three of the 24 patients (12.5%) had neonatal acute respiratory disorders. Neonatal transient tachypnea developed in all patients with only oxygenation for two or three days after birth. Chest X-rays showed spontaneous pneumothorax or pneumomediastinum in two patients. In conclusion, 21-OHD patients may present with acute respiratory disorders, especially transient tachypnea with spontaneous pneumothorax, at birth. In cases of delivering mothers having other children with 21-OHD, newborns require attention regarding neonatal respiratory disorders if a prenatal diagnosis has not been performed.
ISSN:0918-8959
1348-4540
DOI:10.1507/endocrj.K11E-036